Novel SOST gene mutation in a sclerosteosis patient and her parents

Bone

Volumn 52, Issue 2, 2013, Pages 707-710

  Bhadada, Sanjay Kumar ^a   Rastogi, Ashu ^a   Steenackers, Ellen ^b   Boudin, Eveline ^b   Arya, Ashutosh ^a   Dhiman, Vandana ^a   Bhansali, Anil ^a   Van Hul, Wim ^b  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^b UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Frame shift mutation; Sclerosteosis; SOST gene

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; SCLEROSTIN;

ADULT; ARTICLE; BONE DENSITY; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED EMISSION TOMOGRAPHY; CRANIOTUBULAR HYPEROSTOSIS; DISEASE EXACERBATION; DUAL ENERGY X RAY ABSORPTIOMETRY; EXON; FEMALE; FRAMESHIFT MUTATION; FRONTAL BOSSING; GENE; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HEADACHE; HEARING IMPAIRMENT; HUMAN; HYPEROSTOSIS; INDIA; LOSS OF FUNCTION MUTATION; LRP5 GENE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; OSTEOSCLEROSIS; PARENT; SOST GENE; SYNDACTYLY; VISUAL IMPAIRMENT;

AMINO ACID SEQUENCE; BASE SEQUENCE; BONE MORPHOGENETIC PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; HUMANS; HYPEROSTOSIS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PARENTS; PEDIGREE; PELVIS; SYNDACTYLY; YOUNG ADULT;

EID: 84871795459     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.10.009     Document Type: Article

References (16)

1. Hirsch I.S. Generalized osteitis fibrosa. Radiology 1929, 13:44-84.
2. Truswell A.S. Osteopetrosis with syndactyly; a morphological variant of Albers-Schonberg's disease. J Bone Joint Surg Br 1958, 40:209-218.
3. Hansen H.G. Sklerosteose. Handbuch der Kinderheilkunde 1967, 351-355. Springer, Berlin. H. Opitz, F. Schmid (Eds.).
4. Beighton P. Sclerosteosis. J Med Genet 1988, 25:200-203.
5. Beighton P., Barnard A., Hamersma H., van der Wouden A. The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 1984, 125:175-181.
6. Van Buchem F.S.P., Prick J.J.G., Jaspar H.H.J. Hyperostosis corticalis generalisata familiaris (van Buchem's disease). Acta Radiol 1955, 44:109-120.
7. Van Hul W., Balemans W., Van Hul E., Dikkers F.G., Obee H., Stokroos R.J., et al. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. Am J Hum Genet 1998, 62:391-399.
8. Balemans W., Ende J.V.D., Paes-Alves A.F., Dikkers F.G., Willems P.J., Vanhoenacker F., et al. Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. Am J Hum Genet 1999, 64:1661-1669.
9. Balemans W., Ebeling M., Patel N., Hul V.E., Olson P., Dioszegi M., et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 2001, 10:537-543.
10. Brunkow M.E., Gardner J.C., Van Ness J., Paeper B.W., Kovacevich B.R., Proll S., et al. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet 2001, 68:577-589.
11. Balemans W., Cleiren E., Siebers U., Horst J., Van Hul W. A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. Bone 2005, 36:943-947.
12. Kim C.A., Honjo R., Bertola D., Albano L., Oliviera L., Jales S., et al. A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. Genet Test 2008, 12:475-479.
13. Piters E., Culha C., Moester M., Bezooijen R.V., Adriaensen D., Mueller T., et al. First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function. Hum Mutat 2010, 31:1526-1543.
14. Balemans W., Patel N., Ebeling M., Hul E.V., Wuyts W., Lacza C., et al. Identification of a 52kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 2002, 39:91-97.
15. Staehling-Hampton K., Proll S., Paeper B.W., Zhao L., Charmley P., Brown A., et al. A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. Am J Med Genet 2002, 110:144-152.
16. Loots G.G., Kneissel M., Keller H., Baptist M., Chang J., Collette N.M., et al. Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. Genome Res 2005, 15:928-935.